Canonical Allele Identifier: CA2654972343

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990466-A-AGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990467insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC , CM000683.2:g.45990466_45990467insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	GRCh38
NC_000021.8:g.47410380_47410381insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC , CM000683.1:g.47410380_47410381insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	GRCh37
NC_000021.7:g.46234808_46234809insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	NCBI36
NG_008674.1:g.13718_13719insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC , LRG_475:g.13718_13719insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC MANE Select	ENSP00000355180.3:n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGA...
ENST00000361866.7:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	ENSP00000355180.3:n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGA...
ENST00000612273.1:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	ENSP00000483630.1:n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGA...
NM_001848.2:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC , LRG_475t1:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC	NP_001839.2:n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACG...
NM_001848.3:c.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGC MANE Select	NP_001839.2:n.1002+44_1002+45insGGGGACCAGGGGAAGGACGGGGAGGGACG...